Evidence map›Paper›PMID 34652481›Full record

ReviewDer Nervenarzt2022

[Newborn screening program for spinal muscular atrophy].

Heike Kölbel, Katharina Vill, Oliver Schwartz, Astrid Blaschek, Uta Nennstiel, Ulrike Schara-Schmidt, Georg F Hoffmann, Dieter Gläser, Wulf Röschinger, Günther Bernert and 2 more

Abstract readReview
PubMed Publisher
In one paragraph

Review in Der Nervenarzt, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.4field-weighted citation impact, top 36% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed, 3 citations in OpenAlex.

  1. Article
  2. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors at 8 institutions in 2 countries.

Heike KölbelKlinik für Kinderheilkunde, Kinderklinik 1/Neuropädiatrie, Universitätsmedizin Essen (UME), Hufelandstr. 55, Essen, Deutschland. heike.koelbel@uk-essen.de.
Katharina VillDr. v. Haunersches Kinderspital, Ludwig-Maximilians-Universität (LMU), München, Deutschland.
Oliver SchwartzKlinik für Kinder- und Jugendmedizin, UKM, Münster, Deutschland.
Astrid BlaschekDr. v. Haunersches Kinderspital, Ludwig-Maximilians-Universität (LMU), München, Deutschland.
Uta NennstielBayerisches Landesamt für Gesundheit und Lebensmittelsicherheit, Oberschleißheim, Deutschland.
Ulrike Schara-SchmidtKlinik für Kinderheilkunde, Kinderklinik 1/Neuropädiatrie, Universitätsmedizin Essen (UME), Hufelandstr. 55, Essen, Deutschland.
Georg F HoffmannZentrum für Kinder- und Jugendmedizin, UKHD, Heidelberg, Deutschland.
Dieter GläserGenetikum, Neu-Ulm, Deutschland.
Wulf RöschingerLabor Becker und Kollegen, München, Deutschland.
Günther BernertGottfried von Preyer'sches Kinderspital, Wien, Österreich.
Andrea KleinUniversitäts-Kinderspital beider Basel, UKBB, Basel, Schweiz.
Wolfgang Müller-FelberDr. v. Haunersches Kinderspital, Ludwig-Maximilians-Universität (LMU), München, Deutschland.
Ludwig-Maximilians-Universität München · DEZentrum für Kinderheilkunde · DEBayerisches Landesamt für Gesundheit und Lebensmittelsicherheit · DEBecker Technologies (Germany) · DEGenetikum · DEKlinik und Poliklinik für Kinder- und Jugendmedizin · DEOstschweizer Kinderspital · CHUniversity Hospital of Bern · CH

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe introduction of a comprehensive newborn screening program for spinal muscular atrophy (SMA), specifically for 5q-SMA, is planned for the end of 2021 in Germany. Several targeted treatment options have become available for all patients with SMA. MATERIAL AND

methodsNewborn screening for 5q-SMA is based on the detection of a homozygous deletion of exon 7 in the SMN1 gene by molecular genetic analysis from the dried blood card. In all cases a second blood sample must be drawn as a part of confirmation diagnostics including the determination of the SMN2 copy numbers.

resultsInsights from pilot projects performed in parts of Germany are presented. Advantages and disadvantages of the screening project are discussed.

conclusionConsultation and treatment should be carried out in a department of neuropediatrics with experience in the treatment of children with 5q-SMA, which is able to provide all current treatment options for the child, so that, when necessary, the treatment can be started within the first month of life.

Indexed as

Muscular Atrophy, SpinalNeonatal ScreeningChildExonsHomozygoteHumansInfant, NewbornSequence Deletion5q-SMAConfirmation diagnosticsPresymptomatic treatmentSMN2 copy numberSMN protein

Identifiers

PMID34652481
OpenAlexW3207854675

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.